Trying to get answers: One woman’s quest for a diagnosis

Arna Shefrin was on a flight to San Francisco when she became struck by a paralyzing pain in her hip, the first sign of the bizarre illness that would plague her for the next year. In a matter of months, she would become bedridden, tormented by unrelenting pain and by an irritating rash that covered much of her body. She had so little energy that she could barely speak.

Arna is an old friend of mine, and I knew nothing of this when I happened to run into her in February at the buffet table at a local event. I hadn’t seen her in some time, and though she seemed thinner and was lacking her usual exuberance, I saw nothing to suggest she had been seriously ill just months before.

She poured out this nightmare of a tale, describing a medical odyssey that took her to a succession of doctors, none of whom could fully explain her condition or offer any relief. I was mortified to think my friend had suffered so and I had not been there to offer her support and comfort. But she told me she had effectively withdrawn from social contact, as she was "living in the land of the ill."

What saved her, she said, was her husband’s unwavering support — he was her 24-hour caregiver — as well as her determination to find out the source of her illness, even if she had to do it herself. She benefited from a strong medical background: She had spent years as a practitioner and teacher of dental hygiene and had managed clinical trials for two major pain relievers.

“I became irritated with my clinicians whom I felt were unable to help me but were letting me wither,” she told me. “If they were not going to help me, I would have to help myself. My focus became trying to get answers for what was wrong with me.”

Early on in her illness, she was diagnosed with a form of blood cancer known as essential thrombocythemia. But she was skeptical of the diagnosis, as it did not explain the full range of her symptoms, which included the splotchy red rash and a host of immune system irregularities.

Ultimately, she would find her way to two Stanford specialists who would piece together the puzzle of her disease, Schnitzler syndrome, which has been diagnosed in only 300 people in the world. She decided to share her story with me in the hope that someone might see those symptoms in themselves and be spared the agony that she endured.

“If just one person recognizes his or her symptoms in my illness and is able to get help, then having told my story will make it worthwhile,” she said.